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NPHP1

—Nephrocystin 1

Chromosome: 2

Location: 2:110122311-110205071

OMIM: 607100

Ensembl: ENSG00000144061

Official·OMIM:607100 Official·ENSG00000144061

Encodes nephrocystin-1 protein. Mutations cause juvenile nephronophthisis.

Treatment Roadmap — NPHP1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Juvenile Nephronophthisis

Autosomal RecessivePrevalence: 1/50000renal

Official·OMIM:256100 Official·ORPHA655

Summary

Clinical Trial

Approved Therapy

Registered Variant